Lisa G. Shaffer

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Medicine, Genetics, Cognitive Development +6

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 620 citations · Full text

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 586 citations · Full text

Developmental Anomaly, Confer Risk, Developmental Biology +12